Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		0.010 Biomarker disease BEFREE It has recently been discovered that Collagen III, the encoded protein of the type IV Ehlers-Danlos Syndrome (EDS) gene, is one of the major constituents of the pial basement membrane (BM) and serves as the ligand for GPR56. 22235340 2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.010 GeneticVariation disease BEFREE Furthermore, stroke is a well-known complication of several heritable connective tissue disorders, including Marfan's syndrome (FBN1 mutations) and Ehlers-Danlos syndrome type IV (COL3A1 mutations), which predispose to cervical artery dissection, the most frequent cause of cerebral ischemia at young age. 22113147 2012
Entrez Id: 7148
Gene Symbol: TNXB
TNXB 		0.010 GeneticVariation disease BEFREE Thus mutations of type III collagen can cause either EDS IV or EDS III. 7833919 1994
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.010 GeneticVariation disease BEFREE Amplified cDNAs prepared from lymphoblastoid cells were used to identify previously characterized heterozygous mutations in the COL1A1 and COL1A2 genes from two patients with osteogenesis imperfecta and in the COL3A1 gene from a patient with the Ehlers-Danlos syndrome type IV. 1905723 1991
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.010 GeneticVariation disease BEFREE Amplified cDNAs prepared from lymphoblastoid cells were used to identify previously characterized heterozygous mutations in the COL1A1 and COL1A2 genes from two patients with osteogenesis imperfecta and in the COL3A1 gene from a patient with the Ehlers-Danlos syndrome type IV. 1905723 1991
Entrez Id: 91252
Gene Symbol: SLC39A13
SLC39A13 		0.300 Biomarker disease CTD_human The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. 18985159 2008
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 Biomarker disease GENOMICS_ENGLAND Challenges in diagnosis of von Willebrand disease in the presence of combined mutations of different genes. 30690834 2019
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029 2019
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 Biomarker disease CLINGEN Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model. 29551664 2018
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease BEFREE A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family. 28183226 2017
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease BEFREE Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. 28742248 2017
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240 2017
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 Biomarker disease CLINGEN Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family. 28102592 2017
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 Biomarker disease GENOMICS_ENGLAND Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. 26888179 2016
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease CLINVAR Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes. 27306637 2016
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease BEFREE Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome. 26497932 2015
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994 2015
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994 2015
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease BEFREE The novel mutation identified in this study is potentially responsible for Ehlers-Danlos syndrome type IV in this patient, and expands the spectrum of COL3A1 mutations. 25776230 2015
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease CLINVAR Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome. 26497932 2015
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459 2014
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease CLINVAR Familial occurrence and heritable connective tissue disorders in cervical artery dissection. 25355833 2014
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 Biomarker disease GENOMICS_ENGLAND Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459 2014
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 CausalMutation disease CLINVAR Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. 24399159 2014
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		1.000 GeneticVariation disease CLINVAR Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. 24399159 2014